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Skewed X-Chromosome Inactivation and Compensatory Upregulation of Escape Genes Precludes Major Clinical Symptoms in a Female With a Large Xq Deletion.
Santos-Rebouças CB, Boy R, Vianna EQ, Gonçalves AP, Piergiorge RM, Abdala BB, Dos Santos JM, Calassara V, Machado FB, Medina-Acosta E, Pimentel MMG. Santos-Rebouças CB, et al. Among authors: calassara v. Front Genet. 2020 Mar 4;11:101. doi: 10.3389/fgene.2020.00101. eCollection 2020. Front Genet. 2020. PMID: 32194616 Free PMC article.
Understanding the Landscape of X-linked Variants Causing Intellectual Disability in Females Through Extreme X Chromosome Inactivation Skewing.
Vianna EQ, Piergiorge RM, Gonçalves AP, Dos Santos JM, Calassara V, Rosenberg C, Krepischi ACV, Boy da Silva RT, Dos Santos SR, Ribeiro MG, Machado FB, Medina-Acosta E, Pimentel MMG, Santos-Rebouças CB. Vianna EQ, et al. Among authors: calassara v. Mol Neurobiol. 2020 Sep;57(9):3671-3684. doi: 10.1007/s12035-020-01981-8. Epub 2020 Jun 20. Mol Neurobiol. 2020. PMID: 32564284
CHCHD2 mutational screening in Brazilian patients with familial Parkinson's disease.
Voigt DD, Nascimento CM, de Souza RB, Cabello Acero PH, Campos Júnior M, da Silva CP, Pereira JS, Rosso AL, Araujo Leite MA, Vasconcellos LFR, Della Coletta MV, da Silva DJ, Nicaretta DH, Gonçalves AP, Dos Santos JM, Calassara V, Santos-Rebouças CB, Pimentel MMG. Voigt DD, et al. Among authors: calassara v. Neurobiol Aging. 2019 Feb;74:236.e7-236.e8. doi: 10.1016/j.neurobiolaging.2018.09.026. Epub 2018 Sep 27. Neurobiol Aging. 2019. PMID: 30342766
Clinical profiles associated with LRRK2 and GBA mutations in Brazilians with Parkinson's disease.
da Silva CP, de M Abreu G, Cabello Acero PH, Campos M Júnior, Pereira JS, de A Ramos SR, Nascimento CM, Voigt DD, Rosso AL, Araujo Leite MA, Vasconcellos LFR, Nicaretta DH, Della Coletta MV, da Silva DJ, Gonçalves AP, Dos Santos JM, Calassara V, Valença DCT, de M Martins CJ, Santos-Rebouças CB, Pimentel MMG. da Silva CP, et al. Among authors: calassara v. J Neurol Sci. 2017 Oct 15;381:160-164. doi: 10.1016/j.jns.2017.08.3249. Epub 2017 Aug 24. J Neurol Sci. 2017. PMID: 28991672